Property Summary

NCBI Gene PubMed Count 45
PubMed Score 79.27
PubTator Score 194.78

Knowledge Summary

Patent (10,397)

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
astrocytoma 1493 1.13519663248567E-29
oligodendroglioma 2849 1.18382565061934E-22
ependymoma 2514 6.10574498575109E-17
pilocytic astrocytoma 3086 5.04980340755296E-10
glioblastoma 5572 6.86259039742027E-8
adult high grade glioma 2148 1.29780915998919E-6
medulloblastoma 1524 2.0261911651038E-6
lung adenocarcinoma 2714 2.19688617886287E-6
atypical teratoid / rhabdoid tumor 4369 5.17597976138367E-6
medulloblastoma, large-cell 6234 9.25170436959163E-5
lung cancer 4473 0.00403225889674168
Pick disease 1893 0.0491983798629436
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Migraine without aura 6 3.387 1.7
Familial hemiplegic migraine 6 3.257 1.6

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytoma -2.600 0.000
ependymoma -2.900 0.000
oligodendroglioma -2.600 0.000
glioblastoma -3.100 0.000
medulloblastoma -2.900 0.000
atypical teratoid / rhabdoid tumor -3.100 0.000
medulloblastoma, large-cell -2.900 0.000
lung cancer 1.200 0.004
adult high grade glioma -2.900 0.000
pilocytic astrocytoma -2.800 0.000
lung adenocarcinoma 1.400 0.000
Pick disease -1.300 0.049

Synonym

Accession Q15878 B1AM12 B1AM13 B1AM14 Q14580 Q14581
Symbols BII
CACH6
gm139
Cav2.3
CACNL1A6

Gene

PDB

3BXL  

  Ortholog (12)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid

Gene RIF (23)

PMID Text
25741585 Data suggest that, in vascular smooth muscle cells, increase in cytosolic endothelin-1 (EDN1) induces sustained increase in nuclear Ca2+ via stimulation of R-type calcium channel (CACNA1E) present at the nuclear membrane.
23940630 CACNA1E gene single nucleotide polymorphisms may be involved in fentanyl sensitivity.
22846999 quartet of leucine residues in the guanylate kinase domain of CaVbeta determines the plasma membrane density of the CaV2.3 channel.
22633975 The C-terminus of human Ca(v)2.3 voltage-gated calcium channel interacts with alternatively spliced calmodulin-2 expressed in two human cell lines
22427875 CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes.
22178872 the II-III loop of the Ca(v)2.3 calcium channel binds APLP1 and that this binding promotes internalization of the channel
21691059 Ca(v)2.3 Ca2+ channel interacts with the G1-subunit of V-ATPase.
21482359 Lack of high-voltage activated Cav2.3 channels results in a marked decrease in the sensitivity of transgenic animals to gamma-butyrolactone-induced absence epilepsy.
20424473 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQNCFTVNRSLF      1 - 70
IFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPMSRRLEKTEPYFIGIFCFEAG     71 - 140
IKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHFNTHVDLRTLRAVRVLRPLKLVSGIPSLQIV    141 - 210
LKSIMKAMVPLLQIGLLLFFAILMFAIIGLEFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECK    211 - 280
DWIGPNDGITQFDNILFAVLTVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVL    281 - 350
SGEFAKERERVENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT    351 - 420
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYWIVLSLVALNT    421 - 490
ACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSFNCFDFGVTVGSIFEVVWAIF    491 - 560
RPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSMKSIISLLFLLFLFIVVFALLGMQLFGGRFN    561 - 630
FNDGTPSANFDTFPAAIMTVFQILTGEDWNEVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLA    631 - 700
IAVDNLANAQELTKDEQEEEEAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERR    701 - 770
RRHHMSVWEQRTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL    771 - 840
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAGGGEAVVTFED    841 - 910
RARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDHELRGNHGAKEPTIQEERAQD    911 - 980
LRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVVLTEQEPEGSSEQALLGNVQLDMGRVISQSE    981 - 1050
PDLSCITANTDKATTESTSVTVAIPDVDPLVDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEK   1051 - 1120
RETGKAMVPHSSMFIFSTTNPIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFD   1121 - 1190
YVFTGVFTFEMVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL   1191 - 1260
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTDSSKDTEKECI   1261 - 1330
GNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQHSVDVTEEDRGPSRSNRMEMS   1331 - 1400
IFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLEKNERACIDFAISAKPLTRYMPQNRHTFQYR   1401 - 1470
VWHFVVSPSFEYTIMAMIALNTVVLMMKYYSAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRD   1471 - 1540
TWNIFDFITVIGSITEIILTDSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYV   1541 - 1610
CLLIAMLFFIYAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP   1611 - 1680
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFVRVWAE   1681 - 1750
YDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAEDMTVHFTSTLMALIRTALDIK   1751 - 1820
IAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKASDLTVGKIYAAMMIMDYYKQSKVKKQRQQL   1821 - 1890
EEQKNAPMFQRMEPSSLPQEIIANAKALPYLQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQF   1891 - 1960
QERQSLEPEVSELKSVQPSNHGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSN   1961 - 2030
SSWLEEFSMERSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC   2031 - 2100
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLPPVPPKPRPLL   2101 - 2170
SYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQHASPQRYISEPYLALHEDSH   2171 - 2240
ASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPNGHYRRRRRGGPGPGMMCGAVNNLLSDTEED   2241 - 2310
DKC                                                                      2311 - 2313
//

Text Mined References (47)

PMID Year Title
25741585 2015 Nuclear membrane R-type calcium channels mediate cytosolic ET-1-induced increase of nuclear calcium in human vascular smooth muscle cells.
23940630 2013 Association between genetic polymorphisms in Ca(v)2.3 (R-type) Ca2+ channels and fentanyl sensitivity in patients undergoing painful cosmetic surgery.
23870195 2013 Genetics of coronary artery calcification among African Americans, a meta-analysis.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
22846999 2012 A quartet of leucine residues in the guanylate kinase domain of CaV? determines the plasma membrane density of the CaV2.3 channel.
22633975 2012 The C-terminus of human Ca(v)2.3 voltage-gated calcium channel interacts with alternatively spliced calmodulin-2 expressed in two human cell lines.
22427875 2012 CACNA1E variants affect beta cell function in patients with newly diagnosed type 2 diabetes. the Verona newly diagnosed type 2 diabetes study (VNDS) 3.
22178872 2011 APLP1 and Rab5A interact with the II-III loop of the voltage-gated Ca-channel Ca(v)2.3 and modulate its internalization differently.
21691059 2011 Ca(v)2.3 Ca2+ channel interacts with the G1-subunit of V-ATPase.
21482359 2011 Cav2.3 channels are critical for oscillatory burst discharges in the reticular thalamus and absence epilepsy.
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